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Table 1 Characteristics of studies that have determined associations between common VDR variants and melanoma risk

From: Variants Fok1 and Bsm1 on VDR are associated with the melanoma risk: evidence from the published epidemiological studies

Study (Ref) Region Study type Participants SNP site Genotype in cases Genotype in controls Genotyping method HWE-test
Hutchinson, 2000 [15] UK HCC 316 cases, 108 controls Fok1 105 (FF), 142 (Ff), 45 (ff) 52 (FF), 44(Ff), 12 (ff) RFLP 0.563
Taq1 94 (TT), 127 (Tt), 40 (tt) 39 (TT), 41 (Tt), 13 (tt) RFLP 0.675
Han 2007 [16] USA NCC 219 cases, 873 controls Fok1 77 (FF), 101 (Ff), 37 (ff) 325 (FF), 418 (Ff), 111 (ff) Taqman 0.193
Bsm1 85 (bb), 94 (Bb), 29 (BB) 312 (bb), 398 (Bb), 130 (BB) Taqman 0.869
Cdx2 132 (GG), 68 (GA), 5 (AA) 548 (GG), 269 (GA), 36 (AA) Taqman 0.681
Santonocito, 2007 [18] Italy PCC 112 cases, 101 controls Fok1 47 (FF), 41 (Ff), 13 (ff) 41 (FF), 46 (Ff), 14 (ff) RFLP 0.849
Bsm1 37 (bb), 54 (Bb), 10 (BB) 26 (bb), 51 (Bb), 24 (BB) RFLP 0.918
EcoRV 35 (AA), 51 (AG), 15 (GG) 43 (AA), 45 (AG), 13 GG) RFLP 0.819
Povey 2007 [17] UK PCC 596 cases, 441 controls EcoRV 196 (AA), 297 (AG), 103 (GG) 130 (AA), 195 (AG), 86 (GG) RFLP 0.416
Li 2008 [19] USA HCC 805 cases, 841 controls Taq1 330 (TT), 355 (Tt), 120 (tt) 269 (TT), 422 (Tt), 150 (tt) RFLP 0.485
Bsm1 305 (bb), 366 (Bb), 134 (BB) 265 (bb), 427 (Bb), 149 (BB) RFLP 0.308
     Fok1 287 (FF), 427 (Ff), 91 (ff) 344 (FF), 396 (Ff), 101 (ff) RFLP 0.425
Randerson-Moor 2009 (a, [22] ) UK PCC 1028 cases, 402 controls Cdx2 648 (GG), 324 (GA), 56 (AA) 250 (GG), 134 (GA), 18 (AA) ASPCR 0.993
EcoRV 337 (AA), 509 (AG), 182 (GG) 137 (AA), 188 (AG), 77 (GG) ASPCR 0.385
Fok1 381 (FF), 489 (Ff), 158 (ff) 161 (FF), 176 (Ff), 65 (ff) ASPCR 0.152
Bsm1 356 (bb), 497 (Bb), 175 (BB) 134 (bb), 202 (Bb), 66 (BB) RFLP 0.488
ApaI 283 (AA), 524 (Aa), 221 (aa) 120 (AA), 190 (Aa), 92 (aa) ASPCR 0.315
TaqI 369 (TT), 484 (Tt), 175 (tt) 144 (TT), 194 (Tt), 64 (tt) RFLP 0.921
Randerson-Moor 2009 (b, [22]) UK PCC 299 cases, 560 controls Cdx2 193 (GG), 89 (GA), 17 (AA) 350 (GG), 179 (GA), 31 (AA) ASPCR 0.204
     EcoRV 87 (AA), 151 (AG), 61 (GG) 198 (AA), 261 (AG), 101 (GG) ASPCR 0.356
     Fok1 96 (FF), 139 (Ff), 64 (ff) 225 (FF), 255 (Ff), 80 (ff) ASPCR 0.573
     Bsm1 110 (bb), 145 (Bb), 44 (BB) 134 (bb), 202 (Bb), 66 (BB) RFLP 0.488
     ApaI 80 (AA), 151 (Aa), 68 (aa) 175 (AA), 283 (Aa), 102 (aa) ASPCR 0.505
     TaqI 107 (TT), 150 (Tt), 42 (tt) 187 (TT), 273 (Tt), 100 (tt) RFLP 0.983
Gapska 2009 [20] Poland PCC 763 cases, 763 controls Taq1 315 (TT), 351 (Tt), 94 (tt) 324 (TT), 350 (Tt), 88 (tt) Taqman 0.657
Bsm1 327 (bb), 340 (Bb), 96 (BB) 308 (bb), 352 (Bb), 98 (bb) Taqman 0.869
Fok1 240 (FF), 377 (Ff), 144 (ff) 252 (FF), 357 (Ff), 143 (ff) Taqman 0.409
EcoRV 237 (AA),370 (AG), 154 (GG) 216 (AA), 392 (AG), 147 (GG) Taqman 0.195
Halsall 2009 [21] USA HCC 176 cases, 80 controls EcoRV 50 (AA),88 (GA), 38 (GG) 34 (AA), 46 (GA), 10 (GG) RFLP 0.341
Pena-Chilet 2013 [23] Spain HCC 530 cases, 314 controls Taq1 186 (TT), 248 (Tt), 64 (tt) 109 (TT), 141 (Tt), 44 (tt) Kaspar 0.884
Fok1 217 (FF), 225 (Ff), 58 (ff) 140 (FF) , 130 (Ff) , 39 (ff) Kaspar 0.309
EcoRV 183 (AA), 228 (GA), 94 (GG) 106 (AA), 149 (GA), 45 (GG) Kaspar 0.531
Zeljic 2014 [24] Serbia PCC 117 cases, 122 controls EcoRV 24 (AA), 66 (GA), 27 (GG) 37 (AA), 51 (GA), 34 (GG) Taqman 0.071
Fok1 40 (FF), 60 (Ff), 17 (ff) 46 (FF), 62 (Ff), 14 (ff) Taqman 0.312
Taq1 33 (TT), 62 (Tt), 22 (tt) 59 (TT), 48 (Tt), 15 (tt) Taqman 0.192
ApaI 55 (AA), 41 (Aa), 21 (aa) 52 (AA), 41 (Aa), 29 (aa) Taqman 0.001
  1. Abbreviations: ASPCR allele-specific polymerase chain reaction, HCC hospital-based case–control study, HWE Hardy–Weinberg equilibrium, NCC nested case–control study, PCC population-based case–control study, RFLP restriction fragment length polymorphism, SNP single nucleotide polymorphism.